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Kidney Disease: Improving Global Outcomes (KDIGO) Glomerulonephritis Work Group. KDIGO Clinical Practice Guideline for Glomerulonephritis. Kidney inter., Suppl. 2012; 2: 139–274.
Bertsias GK, Tektonidou M, Amoura Z, et al; European League Against Rheumatism and European Renal Association-European Dialysis and Transplant Association. Joint European League Against Rheumatism and European Renal Association-European Dialysis and Transplant Association (EULAR/ERA-EDTA) recommendations for the management of adult and paediatric lupus nephritis. Ann Rheum Dis. 2012 Nov;71(11):1771-82. doi: 10.1136/annrheumdis-2012-201940. Epub 2012 Jul 31. PubMed PMID: 22851469; PubMed Central PMCID: PMC3465859.
DefinitionTop
Fabry disease is a hereditary X-linked disease caused by alpha-galactosidase A deficiency, which leads to tissue accumulation of glycosphingolipids and multiple organ dysfunction.
Clinical FeaturesTop
Renal disease manifests as proteinuria and eventually worsening renal function. Nephrotic range proteinuria and nephrotic syndrome occur in <20% of patients but when present, they lead to increased risk of developing end-stage renal disease (see Chronic Kidney Disease). Common presenting findings include angiokeratomas and severe neuropathic pain. Cardiac involvement occurs in up to 80% of patients and can manifest as myocardial infarction, left ventricular hypertrophy, and conduction problems. Other frequent abnormalities include hypohidrosis, nonspecific abdominal complaints, ocular abnormalities, and hearing impairment.
DiagnosisTop
Diagnosis is based on reduced or absent alpha-galactosidase A activity. Renal biopsy findings include pronounced vacuoles in the glomerular epithelial cells containing glycosphingolipids.
TreatmentTop
Treatment is enzyme replacement with recombinant alpha-galactosidase A infusions.
